Search Result "organic acidurias"


Case Report

123I-FP-CIT Brain SPECT Findings in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Journal: Current Radiopharmaceuticals
Volume: 14 Issue: 1 Year: 2021 Page: 78-83
Author(s): Viviana Frantellizzi,Mariano Pontico,Arianna Pani,Maria Silvia De Feo,Giuseppe De Vincentis

Research Article

Diffusion Tensor Imaging Parameters in Children with Acute Hyperammonemic Encephalopathy due to Urea Cycle Enzyme Defects and Organic Acidemia

Journal: Current Medical Imaging
Volume: 14 Issue: 5 Year: 2018 Page: 837-844
Author(s): Serpil Kurtcan,Alpay Alkan,Huseyin Toprak,Demet Demirkol,Umit Tuzun,Ayse Aralasmak

Research Article

Autism Spectrum Disorders: The Association with Inherited Metabolic Disorders and Some Trace Elements. A Retrospective Study

Journal: CNS & Neurological Disorders - Drug Targets
Volume: 18 Issue: 5 Year: 2019 Page: 413-420
Author(s): Wafaa Moustafa M. Abo El Fotoh,Sameh Abdallah Abd El Naby,Nahla M. Said Abd El Hady

Nuclear Magnetic Resonance Spectroscopy and Genetic Disorders

Journal: Current Medicinal Chemistry
Volume: 15 Issue: 1 Year: 2008 Page: 15-36
Author(s): R. A. Iles

Research Article

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency

Journal: Current Molecular Medicine
Volume: 19 Issue: 7 Year: 2019 Page: 487-493
Author(s): Bárbara J. Henriques,Tânia G. Lucas,Esmeralda Martins,Ana Gaspar,Anabela Bandeira,Célia Nogueira,Otilia Brandão,Hugo Rocha,Laura Vilarinho,Cláudio M. Gomes

Carnitine Metabolism and Deficit - When Supplementation is Necessary?

Journal: Current Pharmaceutical Biotechnology
Volume: 4 Issue: 3 Year: 2003 Page: 211-219
Author(s): A. Evangeliou, D. Vlassopoulos

Review Article

Current Scenario of Clinical Diagnosis to Identify Inborn Errors of Metabolism with Precision Profiling for Expanded Screening in Infancy in a Resource-limited Setting

Journal: Current Pediatric Reviews
Volume: 19 Issue: 1 Year: 2023 Page: 34-47
Author(s): Suman Kumar Ray

Book of Abstract

Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case Report

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 8-8
Author(s):

Book of Abstract

Follow-up of Patients with Hereditary Metabolic Diseases during the 3 Years of the Pandemic in the Reference Center for Hereditary MetabolismDiseases of the Centro Hospitalar Universitário Lisboa Norte

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 14-14
Author(s):

Heterodimeric Amino Acid Transporters: Molecular Biology and Pathological and Pharmacological Relevance

Journal: Current Drug Metabolism
Volume: 2 Issue: 4 Year: 2001 Page: 339-354
Author(s): Yoshikatsu Kanai, Hitoshi Endou

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